Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.
Rett syndrome (RS) was diagnosed in a girl with a t(X;22) (p11.22;p11). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a "forme fruste" of RS. Different etiological mechanisms are considered: gene disruption, X inactivation disturbance, metabolic interference. Whatever this may be, the localization of a RS related gene to the short arm of chromosome X is likely.
Journel
H
H
Institut Gregor Mendel, Vannes, France.
Melki
J
J
Turleau
C
C
Munnich
A
A
de Grouchy
J
J
D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome